A Study of Fabrazyme in Pediatric Patients With Fabry Disease

NCT00074958 | Completed Phase 2 Results

• 1 other identifier: AGAL-016-01
• Study Type: interventional
• Target: 16
• Locations: 4 countries
• Sites: 7

Brief Summary

People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids". These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This study explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.

Conditions

Fabry Disease

Keywords

a-Galactosidase A; aGal; r-haGAL; Fabry; GL-3; Fabrazyme

Outcome Measures

Primary Outcomes (1)

• Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin

  Skin biopsies were taken at Baseline, Week 24 and Week 48 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe).

  Baseline, Week 24 and Week 48

Secondary Outcomes (1)

• Plasma GL-3

  Baseline, Week 24 and Week 48

Study Arms (1)

Fabrazyme

EXPERIMENTAL

1.0 mg/kg of Fabrazyme given to the patients every 2 weeks

Biological: Fabrazyme (agalsidase beta)

Interventions

Fabrazyme (agalsidase beta) BIOLOGICAL

1 mg/kg every 2 weeks

Also known as: r-hαGAL

Fabrazyme

Eligibility Criteria

• Age: 7 Years - 15 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Patient or legal guardian must provide written informed consent
• Patients must have a clinical diagnosis of Fabry disease and active Fabry disease (clinical signs and symptoms)
• Patients must be at least 7 years of age but no older than 15 years of age at time of enrollment
• Patients must be Tanner Stage ≤ III
• Female patients must have a negative pregnancy test prior to each infusion and use a medically accepted form of contraception throughout the study

You may not qualify if:

• Patient has a clinically significant organic disease (with the exception of symptoms relating to Fabry disease) that in the opinion of the investigator would preclude participation in the trial
• Patient has participated in a study employing investigational drug within 30 days of the start of this study
• Patient has received prior treatment with enzyme replacement therapy
• Patient is unable to comply with the clinical protocol

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (7)

University of Arizona

Tucson, Arizona, 85724, United States

Location

Hopital Edouard Herriot

Lyon, Cedex 03, France

Location

Hopital de la Timone Enfants

Marseille, Cedex 05, France

Location

Hopital Europeen Georges Pompidou

Paris, Cedex 15, France

Location

Instytut Pomnik Centrum Zdrowia Dziecka

Warsaw, 04-730, Poland

Location

Royal Manchester Children's Hospital

Pendlebury, Manchester, M27 4HA, United Kingdom

Location

Great Ormond Street Hospital for Sick Children

London, WC1N 3JH, United Kingdom

Location

Related Publications (1)

• Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr. 2008 Apr;152(4):563-70, 570.e1. doi: 10.1016/j.jpeds.2007.09.007. Epub 2007 Dec 3.

  PMID: 18346516 DERIVED

MeSH Terms

Conditions

Fabry Disease

Interventions

agalsidase beta

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Limitations and Caveats

The trial was not powered to demonstrate clinical benefit.

Results Point of Contact

• Title: Genzyme Medical Information
• Organization: Genzyme Corporation

800-745-4447

Study Officials

• Medical Monitor

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: December 24, 2003
• First Posted: December 25, 2003
• Study Start: October 1, 2002
• Primary Completion: May 1, 2005
• Study Completion: July 1, 2005
• Last Updated: April 2, 2015
• Results First Posted: June 16, 2009

Record last verified: 2015-03

Locations

US (1); GB (2); FR (3); PL (1)